Property Summary

NCBI Gene PubMed Count 144
PubMed Score 859.46
PubTator Score 273.53

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count Z-score Confidence
Nonsyndromic deafness 121 6.655 3.3
Palmoplantar keratosis 36 0.0 4.0

Expression

  Differential Expression (18)

Disease log2 FC p
posterior fossa group A ependymoma -5.600 6.8e-19
oligodendroglioma -3.500 1.5e-14
astrocytoma -3.000 3.7e-13
glioblastoma -5.700 3.3e-08
osteosarcoma -2.845 4.3e-07
group 3 medulloblastoma -7.000 3.4e-09
atypical teratoid/rhabdoid tumor -5.800 8.1e-15
medulloblastoma, large-cell -6.200 6.1e-07
primitive neuroectodermal tumor -4.800 4.0e-04
Atopic dermatitis 1.100 2.0e-04
non-small cell lung cancer 4.622 1.8e-13
interstitial cystitis -3.500 1.2e-05
cystic fibrosis 3.200 1.4e-06
adult high grade glioma -5.700 2.5e-09
pilocytic astrocytoma -6.300 2.3e-16
psoriasis 3.000 1.4e-303
subependymal giant cell astrocytoma -4.986 6.6e-04
spina bifida -1.291 3.1e-02

Gene RIF (144)

PMID Text
26620415 identification and functional characterization of a new Cx30 mutation in a family with hearing impairment in association with previously unreported skin anomalies
26265468 found that connexin 26 (Cx26) and Cx30 GJs readily diffuse within the plaque structures, whereas Cx43 GJs remain persistently immobile for more than 2 min after bleaching
26188157 An absence of GJB6 mutations and low frequency of SLC26A4 mutations suggest that additional genetic factors may contribute to nonsyndromic hearing loss in India.
26075227 results suggest that SNPs present in the GJB2 and GJB6 genes may have an influence on ARNSHL in humans.
26046157 Mutations in GJB2, GJB6 and GJA1 are not a major cause of non-syndromic deafness in black Africans
25989237 Screening of GJB6 gene large deletions among Syrians with congenital hearing impairment.
25715449 A new extended deletion in the GJB2 and GJB6 gene sequences (approximately 101 kb in size; NC_000013.10:g.20,757,021_20,858,394del), detected in three unrelated Russian patients, was described and characterized.
25383624 Results show high mRNA and protein levels for Cx43 and Cx30 in breast cancer but they are correlated with improved and bad outcome respectively suggesting that they may serve as prognostic markers in breast cancer.
25288386 GJB6 deletions were not detected.
25155356 Periostin is a robust marker of glioma malignancy and potential tumor recurrence. Abrogation of glioma stem cell tumorigenicity after periostin inhibition provides support for exploring the therapeutic impact of targeting periostin.
24785695 Mutations in GJB6 and GJA1 are not a major cause of nonsyndromic deafness in this group of Africans from Cameroon and South Africa. there is no sufficient evidence to support their testing in a clinical setting for individuals of African ancestry.
24774219 We found a great variety of mutations depending on the analyzed region in patients with SNHL; 57.86% of patients had affection in one or two alleles in GJB2 or GJB6 genes whereas 42.14% were wild-type. In some cases, allele distribution depended on region
24706568 None of the most common types of deletions in the GJB2 gene (c.35delG, c.167delT or c.235delC) were found in this large cohort of deaf children from Uganda
24359029 increased expression in Dupuytren's disease
23981984 study found A c.31G>A (p.G11R) missense mutation in GJB6 gene is the genotypic characteristic for hidrotic ectodermal dysplasia in Chinese population
23863883 Clouston syndrome with heterozygous GJB6 mutation p.Ala88Val and GJB2 variant p.Val27Ile revealing mild sensorineural hearing loss and photophobia in 24 year old Japanese female
23700267 In a cohort of Slovakian cochlear implant users, GJB6 deletion delD13S1830 was identified in only one subject of 131, in double heterozygosity with a GJB6 mutation.
23684175 Significant heterogeneity was observed in the alleles and patterns of NSHI inheritance among the subjects studied
23553242 In a cohort of patients with mild to profound autosomal recessive sensorineural hypoacusis, 1% exhibited compound heterozygosis for GJB6-D13S1830 deletion and 35delG/GJB2.
23503914 In this work, the screening of 77 patients did not reveal the delGJB6-D13S1830 mutation and our results cannot suggest risk of hearing impairment due to this mutation in our population.
23434199 these results showed thatc.35delG is the most common but not the only GJB2 mutation and that the del(GJB6-del D13S1830) is absent in our cohort.
23219093 We identified a recurrent heterozygous mutation c.31G>C (p.Gly11Arg) in the GJB6 gene in the Lebanese-German family with Clouston syndrome.
23171692 the 35delG mutation was detected in 12 (12.7 per cent): 10 (83.3 per cent) were homozygous and 2 (16.7 per cent) heterozygous mutant. The 167delT and del(GJB6-D13S1830) mutations were not detected.
22704424 Genetic analyses of the GJB2 and GJB6 genes indicated that similar pathological genotypes, occurring with similar frequencies, may be responsible for both progressive and non-progressive hearing loss.
22617145 GJB3 and GJB6 genetic variants are associated with the pathogenicity of nonsyndromic sensorineural hearing loss.
22534022 Twenty subjects (59%) had a family history of HL, with 26% specifically reporting familial unilateral HL. Mutational screening revealed sequence variants in the GJB2, GJB3, TECTA, and COCH genes. Two novel mutations were detected in COCH and TECTA.
22389666 Study found no mutations in GJB6 or POU3F4 in nonsyndromic Tibetan Chinese patients with hearing impairment.
22292956 in Cx30, positively charged Glu49 residues establish a potential barrier within the fully open channel
22281373 GJB6 del(GJB6-D13S1830) mutation was not detected in any of Non-syndromic hearing loss samples
22186156 GJB6 mutations is not a common cause of sensorineural hearing loss among chinese population.
22106692 All students with association GJB2 mutation and GJB6 showed severe to profound hearing loss in both ears.
22103400 GJB6 deletion and A1555G mutation account for a minor proportion of nonsyndromic sensorineural hearing loss in the Qatari population
21916817 A neonatal hearing screening program in Campania, Italy did not find any incidence of GJB6 or GJB3 mutations.
21738759 study concludes the hearing loss in probands with the del(GJB6-D13S1854) deletion (and a heterozygous mutation in GJB2) results from a lack of functional Cx26 protein; results are supportive of presence of GJB2 cis-regulatory element(s) upstream GJB6
21731760 The p.A40V mutation in CX30 causes autosomal-dominant nonsyndromic hearing loss.
21392827 GJB2 mutation is not a significant gene in patients diagnosed with hearing loss in subsaharan Africa.
21287563 Heterozygote mutation carriers had less hearing impairment, but most other factors demonstrated no differences. These results support the theory of an unidentified genetic factor contributing to hearing loss in some heterozygote carriers.
21227513 mutations in the GJB6 gene are unlikely to be a major cause of non-syndromic deafness in Asian Indians
21116114 These results indicate that the expression of connexin 30 is a novel differentiation marker mediating the biological behavior of intestinal phenotype gastric cancer.
21086793 Observational study of gene-disease association. (HuGE Navigator)
20858605 The generation and characterization of a mouse model for human bilateral middle/high-frequency hearing loss based on the substitution of an evolutionarily conserved threonine by a methionine at position 5 near the N-terminus of Cx30, is described.
20835527 The frequency of 35delG/GJB2 and del (D13S1830/GJB6) alleles in patients with-non-syndromic deafness was 7.8% and 0.65%, respectively.
20812880 Observational study of gene-disease association. (HuGE Navigator)
20739942 Observational study of genotype prevalence. (HuGE Navigator)
20668687 Observational study of genetic testing. (HuGE Navigator)
20650534 GJB6-associated deafness was correlated with better oral outcomes in Portuguese cochlear implant users
20650534 Observational study of gene-disease association. (HuGE Navigator)
20613545 Observational study of gene-disease association. (HuGE Navigator)
20593197 Observational study of gene-disease association. (HuGE Navigator)
20563649 analysis of GJB2 and GJB6 mutations in Southeastern Brazilians with hereditary nonsyndromic deafness
20553101 Observational study of gene-disease association. (HuGE Navigator)
20536673 G11R mutation in the GJB6 gene caused a novel type of hidrotic ectodermal dysplasia involving only hair and nails in a Chinese family.
20442751 Cx26R184Q coexpressed with either Cx26WT or Cx30WT showed perinuclear localization by bidirectional tet-on expression system, suggesting the impairment of the ability of both WT proteins to intracellular trafficking and targeting to the plasma membrane
20381175 Observational study of gene-disease association. (HuGE Navigator)
20236118 Data show that characterization of distant GJB2/GJB6 cis-regulatory regions evidenced by this allele may be required to find the 'missing' DFNB1 mutations that are believed to exist.
20233142 No GJB6 mutations were found in patients with sensironeural hearing loss.
20233142 Observational study of gene-disease association. (HuGE Navigator)
20086291 303 nonsyndromic hearing-impaired patients (140 familial; 163 sporadic) were examined clinically and screened for mutations in GJB2 and GJB6 genes.
20086291 Observational study of gene-disease association. (HuGE Navigator)
20022641 Observational study of gene-disease association. (HuGE Navigator)
19887791 Observational study of gene-disease association. (HuGE Navigator)
19877196 Observational study of gene-disease association. (HuGE Navigator)
19844737 The Vertical epidermal expression patterns of Cx30 significantly correlated with the proliferative index in the epidermal tumor microenvironment but not with the proliferative index in the tumor.
19814620 Observational study of gene-disease association. (HuGE Navigator)
19744334 Observational study of gene-disease association. (HuGE Navigator)
19723508 this study provides unequivocal support for the hypothesis that del(GJB6-D13S1830) eliminates a putative cis-regulatory element located within the deleted region.
19723508 The GJB6 del(GJB6-D13S1830) does not cause hearing loss through a digenic mechanism of inheritance, but by eliminating a putative cis-regulatory element located within the deleted region that affects GJB2 expression.
19719946 Observational study of gene-disease association. (HuGE Navigator)
19715470 Observational study of gene-disease association. (HuGE Navigator)
19558834 Observational study of gene-disease association. (HuGE Navigator)
19523148 Observational study of gene-disease association. (HuGE Navigator)
19465004 data shows low incidence of pathogenic GJB2 mutations and absence of DeltaGJB6-D13S1830 and A1555G, A3243G and A7445G mitochondrial mutations in North Indian population with non-syndromic hearing impairment.
19371219 Analysis of the GJB6 gene in Italian patients with nonsyndromic hearing loss: frequencies, novel mutations, genotypes, and degree of hearing loss are reported.
19371219 Observational study of gene-disease association. (HuGE Navigator)
19338775 Observational study of gene-disease association. (HuGE Navigator)
19318801 eccrine syringofibroadenoma found in a patient with genetically confirmed GJB6 Clouston syndrome
19285977 The results suggest that the cytoskeleton, and especially actin filaments, are important components in the processes of assembly, trafficking and stabilization of Cx30 gap junctions.
19254696 Observational study of gene-disease association. (HuGE Navigator)
19173109 Hearing loss features in GJB2 biallelic mutations and GJB2/GJB6 digenic inheritance in a large Italian cohort.
19173109 Observational study of gene-disease association. (HuGE Navigator)
19125024 Mutations in the GJB2 gene and del(GJB6 D13S1830) are important causes of hearing impairment in Brazil.
19125024 Observational study of gene-disease association. (HuGE Navigator)
19051073 no apparent differences in speech performance after cochlear implantation between patients with biallelic GJB2 and/or GJB6 mutations and those with deafness of unknown aetiology
19051073 Observational study of gene-disease association. (HuGE Navigator)
19027966 Observational study of gene-disease association. (HuGE Navigator)
18988928 Observational study of gene-disease association. (HuGE Navigator)
18809214 Observational study of gene-disease association. (HuGE Navigator)
18758381 Observational study of gene-disease association. (HuGE Navigator)
18607988 The intent of this study was to investigate the prevalence of the point and digenic mutations including large deletions and duplications in the Cx26, 30, and 31 genes in a Swiss patient cohort with autosomal recessive nonsyndromic hearing impairment.
18607988 Observational study of gene-disease association. (HuGE Navigator)
18585793 We sequenced the GJB2 and GJB6 genes to examine the role of mutations in these genes.No mutations were found in GJB6 gene.
18585793 Observational study of gene-disease association. (HuGE Navigator)
18580690 Observational study of gene-disease association. (HuGE Navigator)
18554165 Observational study of gene-disease association. (HuGE Navigator)
18338563 Some GJB2, GJB3, and GJB6 mutations occurred in deaf students.
18338563 Observational study of gene-disease association. (HuGE Navigator)
18294049 The frequency for the del(GJB6-D13S1830) was 2.5% in Venezuelan patients with autosomal recessive nonsyndromic hearing loss.
18294049 Observational study of genotype prevalence. (HuGE Navigator)
17989577 Mutations in connexin 26 and 30 genes are rare in patients with CRS or RARS and do not seem to play a contributory role in the pathogensis of these disorders.
17989577 Observational study of genotype prevalence. (HuGE Navigator)
17786286 Observational study of gene-disease association. (HuGE Navigator)
17695503 Cx30 expression in head and neck cancer was drastically reduced compared to apparently normal mucosa while Cx26 expression was almost the same.
17672988 Observational study of gene-disease association. (HuGE Navigator)
17666888 findings suggest that loci other than GJB2 and GJB6 contribute to the pathogenesis of autosomal recessive-nonsyndromic sensorineural hearing loss and that the full spectrum of GJB2 sequence changes is not yet fully elucidated
17615163 Cx26 and Cx30 form functional heteromeric and heterotypic channels whose biophysical properties and permeabilities are different from their homotypic counterparts
17438853 Mutation of GJB6 gene is infrequent in the Chinese non-syndromic hearing-loss population.
17438853 Observational study of gene-disease association. (HuGE Navigator)
17426645 Observational study of gene-disease association. (HuGE Navigator)
17426645 None of the study children had the 342-kb deletion (delGJB6-D13S1830) in GJB6, which suggests that this mutation does not play a role in hereditary deafness in the African American population
17368814 frequency of 35delG was about 18.5%, however, del(GJB6-D13S1830) was not found in the studied patients with autosomal recessive non-syndromic hearing loss; results support founder effect regarding these mutations
17357124 Observational study of genotype prevalence. (HuGE Navigator)
17357124 GJB2 mutations, GJB6 deletions, and mtDNA mutations may not be significant in African American and Caribbean Hispanic individuals with hearing impairment
16773579 This is the first evidence of a deafness-associated regulatory mutation of GJB2 and of potential coregulation of GJB2 and GJB6
16406239 Observational study of gene-disease association. (HuGE Navigator)
16222667 Observational study of genotype prevalence. (HuGE Navigator)
16125251 Observational study of genotype prevalence. (HuGE Navigator)
16076412 Observational study of gene-disease association. (HuGE Navigator)
15964725 Observational study of genotype prevalence. (HuGE Navigator)
15964725 mutations in the GJB2 gene and the delGJB6-D13S1830 are prevalent in the Argentinean population in sensorineural deafness
15792634 This study mapped a basal GJB6 promoter sequence active in a human keratinocyte cell line.
15656949 We hereby describe the hearing impairment in Dutch patients with biallelic connexin 26 (GJB2) and GJB2+connexin 30 (GJB6) mutations
15638823 Double heterozygosity with mutations in the GJB6 gene is associated with congenital deafness
15464308 Observational study of genotype prevalence. (HuGE Navigator)
15464308 Data exclude a digenetic association of del(GJB6-D13S1830) with heterozygous GJB2 mutations as a cause of deafness in a representative sample of the population from Eastern Austria.
15464305 Observational study of genotype prevalence. (HuGE Navigator)
15345117 Observational study of gene-disease association. (HuGE Navigator)
15345117 We report the first study of GJB2 and GJB6 mutations in Danish patients with NSHI
15150777 Observational study of genotype prevalence. (HuGE Navigator)
15140236 induction of Cx26 and Cx30 near the wound margins in spontaneous wound healing and-even earlier-after the transplantation of keratinocytes.
15064611 Observational study of gene-disease association. (HuGE Navigator)
15025729 Observational study of genotype prevalence and genetic testing. (HuGE Navigator)
14759569 It showed that patients who are compound heterozygous for a 342-kb deletion involving a large portion of the 5'-part of GJB6, encoding connexin 30, and a GJB2 mutation develop NSHL due to a trait with a digenic pattern of inheritance.
14571368 Observational study of genotype prevalence. (HuGE Navigator)
12872268 Observational study of genotype prevalence. (HuGE Navigator)
12872268 The large GJB6 deletion was not found in the Austrian non-syndromic hearing loss patients.
12865758 GJB2 and GJB6 may have a causative role in deafness
12788524 A G11R missense mutation in the Cx30 gene can cause HED in Chinese Han population .
12767933 Permeability and gating properties of connexin 30.
12419304 skin disease-associated Cx30 mutations:impaired trafficking of the protein to the plasma membrane prevented functional CX30 gap junction formation; deafness-associated mutation: protein trafficked to membrane but channel activity was defective
12172392 Meta-analysis and HuGE review of genotype prevalence, gene-disease association, gene-gene interaction, gene-environment interaction, genetic testing, and healthcare-related. (HuGE Navigator)
11896458 homozygous deletion of a region encompassing this gene causes non syndromic hearing loss
11874494 A novel connexin 30 mutation in Clouston syndrome. we report a novel mutation V37E within the first transmembrane domain of connexin 30 in a spontaneous case of Clouston syndrome.
11807148 A 342-kb deletion in GJB6 is a cause prelingual deafness.
11668644 founder deletion mutation in GJB6 cooperating with a GJB2 mutation in Ashkenazi Jews with non-syndromic deafness

AA Sequence

MDWGTLHTFIGGVNKHSTSIGKVWITVIFIFRVMILVVAAQEVWGDEQEDFVCNTLQPGCKNVCYDHFFP      1 - 70
VSHIRLWALQLIFVSTPALLVAMHVAYYRHETTRKFRRGEKRNDFKDIEDIKKQKVRIEGSLWWTYTSSI     71 - 140
FFRIIFEAAFMYVFYFLYNGYHLPWVLKCGIDPCPNLVDCFISRPTEKTVFTIFMISASVICMLLNVAEL    141 - 210
CYLLLKVCFRRSKRAQTQKNHPNHALKESKQNEMNELISDSGQNAITGFPS                       211 - 261
//

Text Mined References (145)

PMID Year Title
26620415 2016 Functional Analysis of a Novel Connexin30 Mutation in a Large Family with Hearing Loss, Pesplanus, Ichthyosis, Cutaneous Nodules, and Keratoderma.
26265468 2015 Connexin Type and Fluorescent Protein Fusion Tag Determine Structural Stability of Gap Junction Plaques.
26188157 2015 Spectrum and frequency of GJB2, GJB6 and SLC26A4 gene mutations among nonsyndromic hearing loss patients in eastern part of India.
26075227 2015 Single nucleotide polymorphisms of the GJB2 and GJB6 genes are associated with autosomal recessive nonsyndromic hearing loss.
26046157 2015 No evidence for clinical utility in investigating the connexin genes GJB2, GJB6 and GJA1 in non-syndromic hearing loss in black Africans.
25989237 2015 Screening of GJB6 gene large deletions among Syrians with congenital hearing impairment.
25715449 2014 [New recurrent extended deletion, including GJB2 and GJB6 genes, results in isolated sensorineural hearing impairment with autosomal recessive type of inheritance].
25383624 2014 Correlations of differentially expressed gap junction connexins Cx26, Cx30, Cx32, Cx43 and Cx46 with breast cancer progression and prognosis.
25288386 2014 GJB2 and GJB6 mutations are an infrequent cause of autosomal-recessive nonsyndromic hearing loss in residents of Mexico.
25155356 2015 Connexin 30 expression inhibits growth of human malignant gliomas but protects them against radiation therapy.
24785695 2014 In search of genetic markers for nonsyndromic deafness in Africa: a study in Cameroonians and Black South Africans with the GJB6 and GJA1 candidate genes.
24774219 2014 Particular distribution of the GJB2/GJB6 gene mutations in Mexican population with hearing impairment.
24706568 2014 Connexin gene mutations among Ugandan patients with nonsyndromic sensorineural hearing loss.
24359029 2014 Expression of gap junction proteins connexins 26, 30, and 43 in Dupuytren's disease.
23981984 2013 Identification of a known GJB6 mutation in an autosomal dominant inherited Chinese family with hidrotic ectodermal dysplasia.
23863883 2013 Clouston syndrome with heterozygous GJB6 mutation p.Ala88Val and GJB2 variant p.Val27Ile revealing mild sensorineural hearing loss and photophobia.
23700267 2014 Prevalence of DFNB1 mutations among cochlear implant users in Slovakia and its clinical implications.
23684175 2013 Non-syndromic hearing impairment in a multi-ethnic population of Northeastern Brazil.
23553242 2014 Analysis of the presence of the GJB6 mutations in patients heterozygous for GJB2 mutation in Brazil.
23503914 A study of GJB2 and delGJB6-D13S1830 mutations in Brazilian non-syndromic deaf children from the Amazon region.
23434199 2013 GJB2 and GJB6 screening in Tunisian patients with autosomal recessive deafness.
23219093 2013 GJB6, of which mutations underlie Clouston syndrome, is a potential direct target gene of p63.
23171692 2013 Connexin 26 and 30 mutations in paediatric patients with congenital, non-syndromic hearing loss treated with cochlear implantation in Mediterranean Turkey.
22704424 2012 Novel connexin 30 and connexin 26 mutational spectrum in patients with progressive sensorineural hearing loss.
22617145 2013 Evaluation of the pathogenicity of GJB3 and GJB6 variants associated with nonsyndromic hearing loss.
22534022 Etiology of unilateral hearing loss in a national hereditary deafness repository.
22389666 2012 Common molecular etiologies are rare in nonsyndromic Tibetan Chinese patients with hearing impairment.
22292956 2012 Permeation pathway of homomeric connexin 26 and connexin 30 channels investigated by molecular dynamics.
22281373 2012 Prevalence of DFNB1 mutations in Slovak patients with non-syndromic hearing loss.
22186156 2012 Prevalence of GJB6 mutations in Chinese patients with non-syndromic hearing loss.
22106692 2011 The association between GJB2 mutation and GJB6 gene in non syndromic hearing loss school children.
22103400 2012 GJB2 and GJB6 genes and the A1555G mitochondrial mutation are only minor causes of nonsyndromic hearing loss in the Qatari population.
21916817 2011 Mutational analysis for GJB2, GJB6, and GJB3 genes in Campania within a universal neonatal hearing screening programme.
21738759 2011 Allele-specific impairment of GJB2 expression by GJB6 deletion del(GJB6-D13S1854).
21731760 2011 A novel missense mutation in the connexin30 causes nonsyndromic hearing loss.
21392827 2011 Absence of GJB2 gene mutations, the GJB6 deletion (GJB6-D13S1830) and four common mitochondrial mutations in nonsyndromic genetic hearing loss in a South African population.
21287563 2011 Clinical comparison of hearing-impaired patients with DFNB1 against heterozygote carriers of connexin 26 mutations.
21227513 2011 Absence of GJB6 mutations in Indian patients with non-syndromic hearing loss.
21116114 2010 Upregulation of connexin 30 in intestinal phenotype gastric cancer and its reduction during tumor progression.
21086793 2010 Investigation of GJB6 large deletions in Iranian patients using quantitative real-time PCR.
20858605 2010 The human deafness-associated connexin 30 T5M mutation causes mild hearing loss and reduces biochemical coupling among cochlear non-sensory cells in knock-in mice.
20835527 Prevalence of 35delG/GJB2 and del (GJB6-D13S1830) mutations in patients with non-syndromic deafness from a population of Espírito Santo-Brazil.
20812880 2011 The search of a genetic basis for noise-induced hearing loss (NIHL).
20739942 2010 Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations.
20668687 2010 Genotyping with a 198 mutation arrayed primer extension array for hereditary hearing loss: assessment of its diagnostic value for medical practice.
20650534 2010 DFNB1-associated deafness in Portuguese cochlear implant users: prevalence and impact on oral outcome.
20613545 2010 Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children.
20593197 2010 Prospective variants screening of connexin genes in children with hearing impairment: genotype/phenotype correlation.
20563649 2011 Mutation analysis of GJB2 and GJB6 genes in Southeastern Brazilians with hereditary nonsyndromic deafness.
20553101 2010 Causes of hearing impairment in the Norwegian paediatric cochlear implant program.
20536673 2010 G11R mutation in GJB6 gene causes hidrotic ectodermal dysplasia involving only hair and nails in a Chinese family.
20442751 2010 Mutation R184Q of connexin 26 in hearing loss patients has a dominant-negative effect on connexin 26 and connexin 30.
20381175 2010 GJB2 mutation spectrum in 209 hearing impaired individuals of predominantly Caribbean Hispanic and African descent.
20236118 2010 A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression.
20233142 2010 Screening for GJB2 and GJB6 gene mutations in patients from Campania region with sensorineural hearing loss.
20086291 2009 GJB2 and GJB6 gene mutations found in Indian probands with congenital hearing impairment.
20022641 2010 Prevalence of DFNB1 mutations in Argentinean children with non-syndromic deafness. Report of a novel mutation in GJB2.
19887791 2010 GJB2 and GJB6 genes: molecular study and identification of novel GJB2 mutations in the hearing-impaired Argentinean population.
19877196 2010 Pediatric cholesteatoma and variants in the gene encoding connexin 26.
19844737 2010 Melanoma progression exhibits a significant impact on connexin expression patterns in the epidermal tumor microenvironment.
19814620 2009 GJB2 mutations in patients with nonsyndromic hearing loss from Croatia.
19744334 2009 Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China.
19723508 2009 The digenic hypothesis unraveled: the GJB6 del(GJB6-D13S1830) mutation causes allele-specific loss of GJB2 expression in cis.
19719946 2009 Single nucleotide polymorphisms and haplotypes analysis of DFNB1 locus in Chinese sporadic hearing impairment population.
19715470 2009 Screening for the GJB2 c.-3170 G>A (IVS 1+1 G>A) mutation in Brazilian deaf individuals using multiplex ligation-dependent probe amplification.
19558834 2009 [Etiologic analysis of severe to profound hearing loss patients from Chifeng city in Inner Mongolia].
19523148 2009 Analysis of gene polymorphisms associated with K ion circulation in the inner ear of patients susceptible and resistant to noise-induced hearing loss.
19465004 2009 Low incidence of GJB2, GJB6 and mitochondrial DNA mutations in North Indian patients with non-syndromic hearing impairment.
19416251 2009 Novel mutation p.Gly59Arg in GJB6 encoding connexin 30 underlies palmoplantar keratoderma with pseudoainhum, knuckle pads and hearing loss.
19371219 2009 Analysis of the GJB2 and GJB6 genes in Italian patients with nonsyndromic hearing loss: frequencies, novel mutations, genotypes, and degree of hearing loss.
19338775 2009 Study of modifiers factors associated to mitochondrial mutations in individuals with hearing impairment.
19318801 2009 Clouston syndrome and eccrine syringofibroadenomas.
19285977 2009 The role of the cytoskeleton in the formation of gap junctions by Connexin 30.
19254696 2009 Mutation in gap and tight junctions in patients with non-syndromic hearing loss.
19173109 2009 Hearing loss features in GJB2 biallelic mutations and GJB2/GJB6 digenic inheritance in a large Italian cohort.
19125024 2009 Prevalence of GJB2 (connexin-26) and GJB6 (connexin-30) mutations in a cohort of 300 Brazilian hearing-impaired individuals: implications for diagnosis and genetic counseling.
19051073 2009 Performance of speech perception after cochlear implantation in DFNB1 patients.
19027966 2009 Splice variant IVS2-2A>G in the SLC26A5 (Prestin) gene in five Estonian families with hearing loss.
18988928 2008 Genetic analysis of presbycusis by arrayed primer extension.
18809214 2008 Absence of GJB3 and GJB6 mutations in Moroccan familial and sporadic patients with autosomal recessive non-syndromic deafness.
18758381 2008 Phenotype/genotype correlations in a DFNB1 cohort with ethnical diversity.
18607988 2008 Mutation analysis of the Cx26, Cx30, and Cx31 genes in autosomal recessive nonsyndromic hearing impairment.
18585793 2008 Molecular analysis of the GJB2, GJB6 and SLC26A4 genes in Korean deafness patients.
18580690 2008 Infant hearing loss and connexin testing in a diverse population.
18554165 2008 Genotyping for Cx26 and Cx30 mutations in cases with congenital hearing loss.
18338563 2008 [Mutation analysis of GJB2, GJB3 and GJB6 gene in deaf population from special educational school of Chifeng city].
18294049 2007 Detection of the 35delG/GJB2 and del(GJB6-D13S1830) mutations in Venezuelan patients with autosomal recessive nonsyndromic hearing loss.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17989577 2008 Connexin 26 and 30 genes mutations in patients with chronic rhinosinusitis.
17786286 2007 A new mutation in the human pres gene and its effect on prestin function.
17695503 Decreased expression of connexin-30 and aberrant expression of connexin-26 in human head and neck cancer.
17672988 2007 [The roles of connexin genes in sporadic hearing loss population].
17666888 2007 A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.
17615163 2007 Human connexin26 and connexin30 form functional heteromeric and heterotypic channels.
17438853 2007 [GJB6 gene mutation analysis in Chinese nonsyndromic deaf population].
17426645 2007 GJB2 and GJB6 mutations in children with congenital cytomegalovirus infection.
17368814 2007 Common mutation analysis of GJB2 and GJB6 genes in affected families with autosomal recessive non-syndromic hearing loss from Iran: simultaneous detection of two common mutations (35delG/del(GJB6-D13S1830)) in the DFNB1-related deafness.
17357124 2007 Mutations in GJB2, GJB6, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment.
16773579 2006 Expression of GJB2 and GJB6 is reduced in a novel DFNB1 allele.
16406239 2006 Mutational analysis of the mitochondrial 12S rRNA and tRNASer(UCN) genes in Tunisian patients with nonsyndromic hearing loss.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16303743 2005 Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries.
16222667 2005 Connexin 26 variants and auditory neuropathy/dys-synchrony among children in schools for the deaf.
16125251 2006 Ethnicity and mutations in GJB2 (connexin 26) and GJB6 (connexin 30) in a multi-cultural Canadian paediatric Cochlear Implant Program.
16076412 2005 Cx26 gene mutations in idiopathic progressive hearing loss.
15994881 2005 A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment.
15964725 2005 Prevalence of GJB2 mutations and the del(GJB6-D13S1830) in Argentinean non-syndromic deaf patients.
15792634 2005 Gene structure and promoter analysis of the human GJB6 gene encoding connexin 30.
15656949 2005 Hearing impairment in Dutch patients with connexin 26 (GJB2) and connexin 30 (GJB6) mutations.
15638823 2005 Double heterozygosity with mutations involving both the GJB2 and GJB6 genes is a possible, but very rare, cause of congenital deafness in the Czech population.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15464308 2004 Screening for monogenetic del(GJB6-D13S1830) and digenic del(GJB6-D13S1830)/GJB2 patterns of inheritance in deaf individuals from Eastern Austria.
15464305 2004 Prevalence of the GJB2 mutations and the del(GJB6-D13S1830) mutation in Brazilian patients with deafness.
15345117 2004 GJB2 and GJB6 mutations in 165 Danish patients showing non-syndromic hearing impairment.
15342556 2004 Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.
15150777 2004 Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: genotypic and phenotypic analysis.
15140236 2004 Connexins 26, 30, and 43: differences among spontaneous, chronic, and accelerated human wound healing.
15064611 2004 Connexin 26 and connexin 30 mutations in children with nonsyndromic hearing loss.
15057823 2004 The DNA sequence and analysis of human chromosome 13.
15025729 2004 The frequency of GJB2 and GJB6 mutations in the New York State newborn population: feasibility of genetic screening for hearing defects.
14759569 2004 Phenotypic variability of non-syndromic hearing loss in patients heterozygous for both c.35delG of GJB2 and the 342-kb deletion involving GJB6.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14595769 2003 Gap junctions in the inner ear: comparison of distribution patterns in different vertebrates and assessement of connexin composition in mammals.
14571368 2003 Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study.
12872268 2003 The 342-kb deletion in GJB6 is not present in patients with non-syndromic hearing loss from Austria.
12865758 Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands.
12788524 2003 A mutation in the connexin 30 gene in Chinese Han patients with hidrotic ectodermal dysplasia.
12767933 2003 Permeability and gating properties of human connexins 26 and 30 expressed in HeLa cells.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12419304 2002 Functional studies of human skin disease- and deafness-associated connexin 30 mutations.
12172392 GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review.
11896458 2002 A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?
11874494 2002 A novel connexin 30 mutation in Clouston syndrome.
11807148 2002 A deletion involving the connexin 30 gene in nonsyndromic hearing impairment.
11668644 2001 A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews.
11245683 2001 Cell-specific expression of connexins and evidence of restricted gap junctional coupling between glial cells and between neurons.
11017065 2000 Mutations in GJB6 cause hidrotic ectodermal dysplasia.
10737800 2000 Shotgun sequencing of the human transcriptome with ORF expressed sequence tags.
10610709 1999 Human connexin 30 (GJB6), a candidate gene for nonsyndromic hearing loss: molecular cloning, tissue-specific expression, and assignment to chromosome 13q12.
10471490 1999 Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus.
9606177 1998 Clonally-related immunoglobulin VH domains and nonrandom use of DH gene segments in rheumatoid arthritis synovium.
9215774 1997 The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region.
8845850 1996 The gene responsible for Clouston hidrotic ectodermal dysplasia maps to the pericentromeric region of chromosome 13q.
8621942 1996 Phage display cloning and characterization of an immunogenetic marker (perinuclear anti-neutrophil cytoplasmic antibody) in ulcerative colitis.
7737190 1995 Characterization of the two unique human anti-flavin monoclonal immunoglobulins.